Canonical Allele Identifier: CA8133966

Gene: COG8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69336674C>T , CM000678.2:g.69336674C>T	GRCh38
NC_000016.9:g.69370577C>T , CM000678.1:g.69370577C>T	GRCh37
NC_000016.8:g.67928078C>T	NCBI36
NG_009013.1:g.7950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032382.5:c.416G>A MANE Select	NP_115758.3:p.Arg139His
ENST00000306875.10:c.416G>A MANE Select	ENSP00000305459.6:p.Arg139His
NM_001374871.1:c.416G>A	NP_001361800.1:p.Arg139His
NM_001379261.1:c.416G>A	NP_001366190.1:p.Arg139His
NM_001379262.1:c.416G>A	NP_001366191.1:p.Arg139His
NM_001379263.1:c.416G>A	NP_001366192.1:p.Arg139His
NM_001379264.1:c.416G>A	NP_001366193.1:p.Arg139His
NM_001379265.1:c.416G>A	NP_001366194.1:p.Arg139His
NM_001379266.1:c.416G>A	NP_001366195.1:p.Arg139His
NM_032382.4:c.416G>A	NP_115758.3:p.Arg139His
ENST00000306875.8:c.416G>A	ENSP00000305459.4:p.Arg139His
ENST00000562081.2:c.416G>A	ENSP00000455954.1:p.Arg139His
ENST00000562595.5:c.357G>A
ENST00000563634.1:c.41G>A	ENSP00000454500.1:p.Arg14His
ENST00000564737.1:c.505G>A
ENST00000567493.1:c.-5G>A	ENSP00000464395.1:n.-5G>A
ENST00000570293.5:c.355G>A	ENSP00000464417.1:n.355G>A